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Title: Desenvolupament d'un aplicatiu web per la correcta classificació de variants genètiques en els gens causants de les RASopaties
Author: Castellanos Pérez, Elisabeth
Tutor: Mallona, Izaskun  
Others: Prados Carrasco, Ferran  
Abstract: The purpose of genetic diagnosis is to determine the genetic cause of the development of hereditary diseases, such as RASopathies. The study of genetic alterations is performed using NGS and these are classified according to their deleterious effect. In this project we propose to generate an application to automate this classification process in Rasopathies-related genes following the guidelines established internationally. Using R-Shiny, a GUI has been generated to automate the classification of genetic variants. The necessary information is extracted from our own database (Pandora) and from the literature. An R-script previously developed in the group has evolved so that it does not contain snippets of gene specific code or the credentials to access Pandora. This was later modified to be R-shiny compatible and a GUI was generated locally. This GUI requires theu user indicates the variant to be classified and include all data that cannot be extracted from Pandora. As a result, the app generates a summary table of the variant to be classified, the criteria that the variant meets in order to be classified and the final classification. In total, 20 previously manually classified variants were evaluated. Attempts have also been made to transform this GUI into a server GUI. The local GUI is very useful for classifying variants in the RASopathiesrelated genes. This GUI has been validated comparing manual and automatic classification but is not yet functional in server format.
Keywords: Shiny
variant classification
Document type: info:eu-repo/semantics/masterThesis
Issue Date: 24-Jun-2020
Publication license:  
Appears in Collections:Trabajos finales de carrera, trabajos de investigación, etc.

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